Incidental Mutation 'IGL02971:St8sia2'
ID 365809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia2
Ensembl Gene ENSMUSG00000025789
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
Synonyms ST8SiaII, Siat8b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02971
Quality Score
Chromosome 7
Chromosomal Location 73588867-73663408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73616559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 139 (V139M)
Ref Sequence ENSEMBL: ENSMUSP00000141307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026896] [ENSMUST00000191970]
AlphaFold O35696
Predicted Effect probably damaging
Transcript: ENSMUST00000026896
AA Change: V160M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: V160M

signal peptide 1 23 N/A INTRINSIC
low complexity region 25 39 N/A INTRINSIC
Pfam:Glyco_transf_29 109 369 2.7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191970
AA Change: V139M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789
AA Change: V139M

signal peptide 1 23 N/A INTRINSIC
low complexity region 25 38 N/A INTRINSIC
Pfam:Glyco_transf_29 84 206 5.8e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in St8sia2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:St8sia2 APN 7 73,626,430 (GRCm39) missense probably benign 0.00
IGL02261:St8sia2 APN 7 73,616,594 (GRCm39) missense probably damaging 1.00
IGL02941:St8sia2 APN 7 73,626,397 (GRCm39) intron probably benign
BB001:St8sia2 UTSW 7 73,616,700 (GRCm39) missense probably damaging 1.00
BB011:St8sia2 UTSW 7 73,616,700 (GRCm39) missense probably damaging 1.00
IGL03147:St8sia2 UTSW 7 73,616,567 (GRCm39) missense probably damaging 1.00
R0052:St8sia2 UTSW 7 73,621,700 (GRCm39) missense probably damaging 1.00
R0052:St8sia2 UTSW 7 73,593,038 (GRCm39) nonsense probably null
R0052:St8sia2 UTSW 7 73,593,038 (GRCm39) nonsense probably null
R0733:St8sia2 UTSW 7 73,610,588 (GRCm39) missense probably benign
R1202:St8sia2 UTSW 7 73,621,783 (GRCm39) missense probably benign 0.43
R1419:St8sia2 UTSW 7 73,616,742 (GRCm39) nonsense probably null
R1962:St8sia2 UTSW 7 73,593,057 (GRCm39) missense probably damaging 1.00
R2051:St8sia2 UTSW 7 73,592,950 (GRCm39) missense possibly damaging 0.91
R4106:St8sia2 UTSW 7 73,610,509 (GRCm39) missense probably damaging 1.00
R4989:St8sia2 UTSW 7 73,616,709 (GRCm39) missense possibly damaging 0.75
R5541:St8sia2 UTSW 7 73,616,648 (GRCm39) missense probably benign 0.00
R5859:St8sia2 UTSW 7 73,616,654 (GRCm39) missense probably damaging 1.00
R6029:St8sia2 UTSW 7 73,610,458 (GRCm39) missense possibly damaging 0.96
R6260:St8sia2 UTSW 7 73,626,441 (GRCm39) missense possibly damaging 0.56
R6416:St8sia2 UTSW 7 73,621,669 (GRCm39) missense probably damaging 1.00
R7371:St8sia2 UTSW 7 73,616,675 (GRCm39) missense probably damaging 0.99
R7424:St8sia2 UTSW 7 73,610,650 (GRCm39) missense possibly damaging 0.66
R7763:St8sia2 UTSW 7 73,593,069 (GRCm39) missense probably damaging 1.00
R7924:St8sia2 UTSW 7 73,616,700 (GRCm39) missense probably damaging 1.00
R8688:St8sia2 UTSW 7 73,593,092 (GRCm39) missense probably damaging 1.00
R9137:St8sia2 UTSW 7 73,610,654 (GRCm39) missense probably benign 0.03
R9139:St8sia2 UTSW 7 73,616,513 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18